학술논문
'학술논문'
에서 검색결과 109건 | 목록
1~10
Academic Journal
Jeanne, M; Demory, H; Moutal, A; Vuillaume, ML; Blesson, S; Thepault, RA; Marouillat, S; Halewa, J; Maas, SM; Motazacker, MM; Mancini, GMS; Van Slegtenhorst, MA; Andreou, A; Cox, H; Vogt, J; Laufman, J; Kostandyan, N; Babikyan, D; Hancarova, M; Bendova, S; Sedlacek, Z; Aldinger, KA; Sherr, EH; Argilli, E; England, EM; Audebert-Bellanger, S; Bonneau, D; Colin, E; Denomme-Pichon, AS; Gilbert-Dussardier, B; Isidor, B; Kury, S; Odent, S; Redon, R; Khanna, R; Dobyns, WB; Bezieau, S; Honnorat, J; Lohkamp, B; Toutain, A; Laumonnier, F
American journal of human genetics. 108(5):951-961
Academic Journal
Cogne, B; Ehresmann, S; Beauregard-Lacroix, E; Rousseau, J; Besnard, T; Garcia, T; Petrovski, S; Avni, S; McWalter, K; Blackburn, PR; Sanders, SJ; Uguen, K; Harris, J; Cohen, JS; Blyth, M; Lehman, A; Berg, J; Li, MH; Kini, U; Joss, S; von der Lippe, C; Gordon, CT; Humberson, JB; Robak, L; Scott, DA; Sutton, VR; Skraban, CM; Johnston, JJ; Poduri, A; Nordenskjold, M; Shashi, V; Gerkes, EH; Bongers, EMHF; Gilissen, C; Zarate, YA; Kvarnung, M; Lally, KP; Kulch, PA; Daniels, B; Hernandez-Garcia, A; Stong, N; McGaughran, J; Retterer, K; Tveten, K; Sullivan, J; Geisheker, MR; Stray-Pedersen, A; Tarpinian, JM; Klee, EW; Sapp, JC; Zyskind, J; Holla, OL; Bedoukian, E; Filippini, F; Guimier, A; Picard, A; Busk, OL; Punetha, J; Pfundt, R; Lindstrand, A; Nordgren, A; Kalb, F; Desai, M; Ebanks, AH; Jhangiani, SN; Dewan, T; Akdemir, ZHC; Telegrafi, A; Zackai, EH; Begtrup, A; Song, XF; Toutain, A; Wentzensen, IM; Odent, S; Bonneau, D; Latypova, X; Deb, W; Redon, S; Bilan, F; Legendre, M; Troyer, C; Whitlock, K; Caluseriu, O; Murphree, MI; Pichurin, PN; Agre, K; Gavrilova, R; Rinne, T; Park, M; Shain, C; Heinzen, EL; Xiao, R; Amiel, J; Lyonnet, S; Isidor, B; Biesecker, LG; Lowenstein, D; Posey, JE; Denomme-Pichon, AS; Ferec, C; Yang, XJ; Rosenfeld, JA; Gilbert-Dussardier, B; Audebert-Bellanger, S; Redon, R; Stessman, HAF; Nellaker, C; Yang, YP; Lupski, JR; Goldstein, DB; Eichler, EE; Bolduc, F; Bezieau, S; Kury, S; Campeau, PM
American journal of human genetics. 104(3):530-541
Academic Journal
Padhi, Evin M; Hayeck, Tristan J; Cheng, Zhang; Chatterjee, Sumantra; Mannion, Brandon J; Byrska-Bishop, Marta; Willems, Marjolaine; Pinson, Lucile; Redon, Sylvia; Benech, Caroline; Uguen, Kevin; Audebert-Bellanger, Séverine; Le Marechal, Cédric; Férec, Claude; Efthymiou, Stephanie; Rahman, Fatima; Maqbool, Shazia; Maroofian, Reza; Houlden, Henry; Musunuri, Rajeeva; Narzisi, Giuseppe; Abhyankar, Avinash; Hunter, Riana D; Akiyama, Jennifer; Fries, Lauren E; Ng, Jeffrey K; Mehinovic, Elvisa; Stong, Nick; Allen, Andrew S; Dickel, Diane E; Bernier, Raphael A; Gorkin, David U; Pennacchio, Len A; Zody, Michael C; Turner, Tychele N
Human Genomics. 15(1)
Academic Journal
Evin M. Padhi; Tristan J. Hayeck; Zhang Cheng; Sumantra Chatterjee; Brandon J. Mannion; Marta Byrska-Bishop; Marjolaine Willems; Lucile Pinson; Sylvia Redon; Caroline Benech; Kevin Uguen; Séverine Audebert-Bellanger; Cédric Le Marechal; Claude Férec; Stephanie Efthymiou; Fatima Rahman; Shazia Maqbool; Reza Maroofian; Henry Houlden; Rajeeva Musunuri; Giuseppe Narzisi; Avinash Abhyankar; Riana D. Hunter; Jennifer Akiyama; Lauren E. Fries; Jeffrey K. Ng; Elvisa Mehinovic; Nick Stong; Andrew S. Allen; Diane E. Dickel; Raphael A. Bernier; David U. Gorkin; Len A. Pennacchio; Michael C. Zody; Tychele N. Turner
Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)
Academic Journal
Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; Gassen, Koen L. I. van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B. A. de; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Jr., Julian L.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(6):1028-1040
Academic Journal
Diallo, M.; Courdier, C.; Mercier, E.; Sequeira, A.; Defay-Stinat, A.; Javerzat, S.; Michaud, V.; Arveiler, B.; Plaisant, C.; Lasseaux, E.; Bourgeade, L.; Mesdaghi, S.; Rigden, D.; Audebert-Bellanger, S.; Dollfus, H.; Hadj-Rabia, S.; Morice-Picard, F.; Philibert, M.; Sidibé, M.K.; Sylla, O.; Smirnov, V.
In: International Journal of Molecular Sciences . (International Journal of Molecular Sciences, August 2024, 25(16))
Academic Journal
Massier, M.; Doco-Fenzy, M.; Jacquin, C.; Landais, E.; Poirsier, C.; Moradkhani, K.; Mercier, S.; Isidor, B.; Egloff, M.; Le Guillou, X.; Le Guyader, G.; Redon, S.; Le Millier, K.; Uguen, K.; Audebert-Bellanger, S.; Ropars, J.; Sacaze, E.; Benech, C.; Apetrei, A.; Molin, A.; Gruchy, N.; Vincent-Devulder, A.; Spodenkiewicz, M.; Loron, G.; Thibaud, M.; Delplancq, G.; Brisset, S.; Lesieur-Sebellin, M.; Malan, V.; Romana, S.; Rio, M.; Marlin, S.; Amiel, J.; Marquet, V.; Dauriat, B.; Arpin, S.; Toutain, A.; Pujalte, M.; Gouy, E.; Jedraszak, G.; Pebrel-Richard, C.; Salaun, G.; Laffargue, F.; Boudjarane, J.; Missirian, C.; Chelloug, N.; Chiesa, J.; Keren, B.; Mignot, C.; Jaillard, S.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, July 2024, 194(7))
Academic Journal
Uguen, K.; Redon, S.; Rouault, K.; Pensec, M.; Schutz, S.; Le Maréchal, C.; Férec, C.; Audebert-Bellanger, S.; Benech, C.; Zanlonghi, X.; Nadjar, Y.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2024, 194(5))
Academic Journal
Herbst, C.; Bothe, V.; Wegler, M.; Abou Jamra, R.; Oppermann, H.; Axer-Schaefer, S.; Polster, T.; Audebert-Bellanger, S.; Gecz, J.; van Eyk, C.L.; Cogne, B.; Nizon, M.; Feldman, H.B.; Kurolap, A.; Horn, A.H.C.; Sticht, H.; Hurst, A.C.E.; Kelly, M.A.; Kruer, M.C.; Laquerriere, A.; Li, M.; Mark, P.R.; Morawski, M.; Stieler, J.T.; Pastinen, T.; Thifffault, I.; Saugier-Veber, P.; Vezain-Mouchard, M.; SeSong, J.; Marcorelles, P.
In: Human Genetics . (Human Genetics, March 2024, 143(3):455-469)
Academic Journal
Husson, T.; Guillin, O.; Campion, D.; Lecoquierre, F.; Nicolas, G.; Richard, A.-C.; Goldenberg, A.; Guerrot, A.-M.; Saugier-Veber, P.; Vera, G.; Afenjar, A.; Audebert-Bellanger, S.; Planes, M.; Quemener-Redon, S.; Badens, C.; Bilan, F.; Bizaoui, V.; Boland, A.; Deleuze, J.-F.; Olaso, R.; Bonnet-Dupeyron, M.-N.; Brischoux-Boucher, E.; Bonnet, C.; Bournez, M.; Nambot, S.; Boute, O.; Caumes, R.; Dieux, A.; Marsili, L.; Petit, F.; Vanlerberghe, C.; Brunelle, P.; Smol, T.; Charles, P.; Chassaing, N.; Chatron, N.; Edery, P.; Gouy, E.; Lesca, G.; Putoux, A.; Rossi, M.; Cogné, B.; Isidor, B.; Nizon, M.; Vincent, M.; Colin, E.; Ziegler, A.; Cormier-Daire, V.; Dard, R.; Dauriat, B.; Delanne, J.; Faivre, L.; Garde, A.; Denommé-Pichon, A.-S.; Mau-Them, F.T.; Demurger, F.; Depienne, C.; Kuechler, A.; Dubourg, C.; El Chehadeh, S.; Fergelot, P.; Lacombe, D.; Van Gils, J.; Fradin, M.; Morel, G.; Quélin, C.; Geneviève, D.; Gilbert-Dussardier, B.; Le Guillou Horn, X.; Goizet, C.; Guimier, A.; Marlin, S.; Rio, M.; Rondeau, S.; Harzalla, I.; Prieur, F.; Touraine, R.; Héron, D.; Lehalle, D.; Mignot, C.; Keren, B.; Lacaze, E.; Lavillaureix, A.; Odent, S.; Lespinasse, J.; Levy, J.; Lyonnet, S.; Jean-Marçais, N.; Pasquier, L.; Perrin, L.; Pingault, V.; Piton, A.; Rama, M.; Schaefer, E.; Sigaudy, S.; Trimouille, A.; Vantalon, V.; Charbonnier, C.
In: European Journal of Human Genetics . (European Journal of Human Genetics, February 2024, 32(2):190-199)
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